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Molecular Diagnostics

Image: Schematic representation of Chiari malformation type 1; it involves the lower part of the cerebellum known as tonsils, but not the brain stem (Photo courtesy of Healthline).

Common Brain Malformation Traced to Its Genetic Roots

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. However about one in 10 of those children, the condition causes headaches, neck pain, hearing, vision and balance disturbances, or other neurological symptoms. More...
12 Jan 2021
Image: Ball-and-stick model of a hydroxychloroquine molecule (Photo courtesy of Wikimedia Commons)

Predicting Thrombosis Risk in SLE Patients by Monitoring Blood Levels of Hydroxychloroquine

Risk of developing a blood clot (thrombosis) by patients suffering from systemic lupus erythematosus can be predicted by monitoring levels of hydroxychloroquine in the blood. More...
12 Jan 2021
Image: Molecular model of the galectin-1 protein (Photo courtesy of Wikimedia Commons)

Elevated Galectin-1 Levels in Sepsis Reflect Danger of Cytokine Storm Development

Increased concentration of the beta-galactoside-binding protein “galectin-1” in sera from human sepsis patients has been found to be a novel biomarker for cytokine storms that may occur in cases with runaway sepsis. More...
11 Jan 2021
Image: Electron micrograph of an hematopoietic stem cell that can be obtained from the umbilical cord blood, adult bone marrow, and peripheral blood (Photo courtesy of Donald W. Fawcett, MD).

Next Generation Sequencing Developed for Monitoring of Mixed Chimerism

Hematopoietic stem-cell transplantation (HSCT) is the only curative treatment for patients with hematological malignant and non-malignant diseases. There are more than 50,000 stem cell transplants are carried out annually worldwide and the number is increasing. More...
07 Jan 2021
Image: The Applied Biosystems Veriti 96-Well Thermal Cycler (Photo courtesy of Thermo Fisher Scientific).

Chitotriosidase Expression in Sarcoidosis Limited by Gene Expression

Sarcoidosis is a multisystem granulomatous disease which affects individuals worldwide of all ages irrespective of ethnicity or race. It is often recognized accidentally when a routine chest radiographic picture shows bilateral hilar lymphadenopathy. More...
06 Jan 2021
Image: The BD Biosciences FACS Vantage Flow Cytometer System (Photo courtesy of Hospital for Special Surgery).

Plasma Serglycin Levels Evaluated for Diabetic Retinopathy Diagnosis

Diabetic retinopathy (DR), a microvascular complication caused by chronic diabetes mellitus (DM), is a significant threat to vision in adults, which may even lead to blindness and retinal detachment. The clinical symptoms of DR include fibrosis, capillary obstruction, neovascularization, and increased vascular permeability. More...
04 Jan 2021
Image: The Chromium Controller is a component of the Chromium platform designed to enable high-throughput analysis of individual biological components, such as up to millions of single cells (Photo courtesy of 10x Genomics).

Single-Cell Transcriptome Links Gut Development, Pediatric Crohn's Disease

Development of the human intestine is a highly complex process that requires synergy between a wide range of cell types. Importantly, environmentally triggered alterations in early development have been implicated in a range of immune-mediated pathologies, including inflammatory bowel diseases (IBD). More...
29 Dec 2020
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